Linked Data
dbSNP Id:
rs11835758
ExAC:
12:53045777 G / C
gnomAD v2:
12-53045777-G-C
gnomAD v4:
12-52651993-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651993G>C , CM000674.2:g.52651993G>C | GRCh38 |
| NC_000012.11:g.53045777G>C , CM000674.1:g.53045777G>C | GRCh37 |
| NC_000012.10:g.51332044G>C | NCBI36 |
| NG_008296.1:g.5183C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.150C>G MANE Select | ENSP00000310861.3:p.Gly50= | |
| ENST00000309680.3:c.150C>G | ENSP00000310861.3:p.Gly50= | |
| NM_000423.2:c.150C>G | NP_000414.2:p.Gly50= | |
| NM_000423.3:c.150C>G MANE Select | NP_000414.2:p.Gly50= |